Articles with "presynaptic congenital" as a keyword



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Presynaptic Congenital Myasthenic Syndromes: Understanding Clinical Phenotypes through In vivo Models.

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Published in 2023 at "Journal of neuromuscular diseases"

DOI: 10.3233/jnd-221646

Abstract: Presynaptic congenital myasthenic syndromes (CMS) are a group of genetic disorders affecting the presynaptic side of the neuromuscular junctions (NMJ). They can result from a dysfunction in acetylcholine (ACh) synthesis or recycling, in its packaging… read more here.

Keywords: vivo models; understanding clinical; congenital myasthenic; presynaptic congenital ... See more keywords